Optical coherence tomography findings in three patients with Werner syndrome

Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmolo...
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Autor*in:	Nagai, Tatsuya [verfasserIn] Yokouchi, Hirotaka Miura, Gen Koshizaka, Masaya Maezawa, Yoshiro Oshitari, Toshiyuki Yokote, Koutaro Baba, Takayuki

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	Werner syndrome Optical coherence tomography (OCT) Retinal thickness Choroidal thickness Juvenile cataracts

Anmerkung:	© The Author(s) 2022

Übergeordnetes Werk:	Enthalten in: BMC ophthalmology - London : BioMed Central, 2001, 22(2022), 1 vom: 19. Nov.
Übergeordnetes Werk:	volume:22 ; year:2022 ; number:1 ; day:19 ; month:11

Links:	Volltext

DOI / URN:	10.1186/s12886-022-02660-z

Katalog-ID:	SPR051149311

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520			\|a Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images.
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allfields	10.1186/s12886-022-02660-z doi (DE-627)SPR051149311 (SPR)s12886-022-02660-z-e DE-627 ger DE-627 rakwb eng Nagai, Tatsuya verfasserin aut Optical coherence tomography findings in three patients with Werner syndrome 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images. Werner syndrome (dpeaa)DE-He213 Optical coherence tomography (OCT) (dpeaa)DE-He213 Retinal thickness (dpeaa)DE-He213 Choroidal thickness (dpeaa)DE-He213 Juvenile cataracts (dpeaa)DE-He213 Yokouchi, Hirotaka (orcid)0000-0001-9371-005X aut Miura, Gen aut Koshizaka, Masaya aut Maezawa, Yoshiro aut Oshitari, Toshiyuki aut Yokote, Koutaro aut Baba, Takayuki aut Enthalten in BMC ophthalmology London : BioMed Central, 2001 22(2022), 1 vom: 19. Nov. (DE-627)331018772 (DE-600)2050436-6 1471-2415 nnns volume:22 year:2022 number:1 day:19 month:11 https://dx.doi.org/10.1186/s12886-022-02660-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2022 1 19 11
spelling	10.1186/s12886-022-02660-z doi (DE-627)SPR051149311 (SPR)s12886-022-02660-z-e DE-627 ger DE-627 rakwb eng Nagai, Tatsuya verfasserin aut Optical coherence tomography findings in three patients with Werner syndrome 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images. Werner syndrome (dpeaa)DE-He213 Optical coherence tomography (OCT) (dpeaa)DE-He213 Retinal thickness (dpeaa)DE-He213 Choroidal thickness (dpeaa)DE-He213 Juvenile cataracts (dpeaa)DE-He213 Yokouchi, Hirotaka (orcid)0000-0001-9371-005X aut Miura, Gen aut Koshizaka, Masaya aut Maezawa, Yoshiro aut Oshitari, Toshiyuki aut Yokote, Koutaro aut Baba, Takayuki aut Enthalten in BMC ophthalmology London : BioMed Central, 2001 22(2022), 1 vom: 19. Nov. (DE-627)331018772 (DE-600)2050436-6 1471-2415 nnns volume:22 year:2022 number:1 day:19 month:11 https://dx.doi.org/10.1186/s12886-022-02660-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2022 1 19 11
allfields_unstemmed	10.1186/s12886-022-02660-z doi (DE-627)SPR051149311 (SPR)s12886-022-02660-z-e DE-627 ger DE-627 rakwb eng Nagai, Tatsuya verfasserin aut Optical coherence tomography findings in three patients with Werner syndrome 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images. Werner syndrome (dpeaa)DE-He213 Optical coherence tomography (OCT) (dpeaa)DE-He213 Retinal thickness (dpeaa)DE-He213 Choroidal thickness (dpeaa)DE-He213 Juvenile cataracts (dpeaa)DE-He213 Yokouchi, Hirotaka (orcid)0000-0001-9371-005X aut Miura, Gen aut Koshizaka, Masaya aut Maezawa, Yoshiro aut Oshitari, Toshiyuki aut Yokote, Koutaro aut Baba, Takayuki aut Enthalten in BMC ophthalmology London : BioMed Central, 2001 22(2022), 1 vom: 19. Nov. (DE-627)331018772 (DE-600)2050436-6 1471-2415 nnns volume:22 year:2022 number:1 day:19 month:11 https://dx.doi.org/10.1186/s12886-022-02660-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2022 1 19 11
allfieldsGer	10.1186/s12886-022-02660-z doi (DE-627)SPR051149311 (SPR)s12886-022-02660-z-e DE-627 ger DE-627 rakwb eng Nagai, Tatsuya verfasserin aut Optical coherence tomography findings in three patients with Werner syndrome 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images. Werner syndrome (dpeaa)DE-He213 Optical coherence tomography (OCT) (dpeaa)DE-He213 Retinal thickness (dpeaa)DE-He213 Choroidal thickness (dpeaa)DE-He213 Juvenile cataracts (dpeaa)DE-He213 Yokouchi, Hirotaka (orcid)0000-0001-9371-005X aut Miura, Gen aut Koshizaka, Masaya aut Maezawa, Yoshiro aut Oshitari, Toshiyuki aut Yokote, Koutaro aut Baba, Takayuki aut Enthalten in BMC ophthalmology London : BioMed Central, 2001 22(2022), 1 vom: 19. Nov. (DE-627)331018772 (DE-600)2050436-6 1471-2415 nnns volume:22 year:2022 number:1 day:19 month:11 https://dx.doi.org/10.1186/s12886-022-02660-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2022 1 19 11
allfieldsSound	10.1186/s12886-022-02660-z doi (DE-627)SPR051149311 (SPR)s12886-022-02660-z-e DE-627 ger DE-627 rakwb eng Nagai, Tatsuya verfasserin aut Optical coherence tomography findings in three patients with Werner syndrome 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images. Werner syndrome (dpeaa)DE-He213 Optical coherence tomography (OCT) (dpeaa)DE-He213 Retinal thickness (dpeaa)DE-He213 Choroidal thickness (dpeaa)DE-He213 Juvenile cataracts (dpeaa)DE-He213 Yokouchi, Hirotaka (orcid)0000-0001-9371-005X aut Miura, Gen aut Koshizaka, Masaya aut Maezawa, Yoshiro aut Oshitari, Toshiyuki aut Yokote, Koutaro aut Baba, Takayuki aut Enthalten in BMC ophthalmology London : BioMed Central, 2001 22(2022), 1 vom: 19. Nov. (DE-627)331018772 (DE-600)2050436-6 1471-2415 nnns volume:22 year:2022 number:1 day:19 month:11 https://dx.doi.org/10.1186/s12886-022-02660-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2022 1 19 11
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topic_facet	Werner syndrome Optical coherence tomography (OCT) Retinal thickness Choroidal thickness Juvenile cataracts
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Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. 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author	Nagai, Tatsuya
spellingShingle	Nagai, Tatsuya misc Werner syndrome misc Optical coherence tomography (OCT) misc Retinal thickness misc Choroidal thickness misc Juvenile cataracts Optical coherence tomography findings in three patients with Werner syndrome
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topic_title	Optical coherence tomography findings in three patients with Werner syndrome Werner syndrome (dpeaa)DE-He213 Optical coherence tomography (OCT) (dpeaa)DE-He213 Retinal thickness (dpeaa)DE-He213 Choroidal thickness (dpeaa)DE-He213 Juvenile cataracts (dpeaa)DE-He213
topic	misc Werner syndrome misc Optical coherence tomography (OCT) misc Retinal thickness misc Choroidal thickness misc Juvenile cataracts
topic_unstemmed	misc Werner syndrome misc Optical coherence tomography (OCT) misc Retinal thickness misc Choroidal thickness misc Juvenile cataracts
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title	Optical coherence tomography findings in three patients with Werner syndrome
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author_browse	Nagai, Tatsuya Yokouchi, Hirotaka Miura, Gen Koshizaka, Masaya Maezawa, Yoshiro Oshitari, Toshiyuki Yokote, Koutaro Baba, Takayuki
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title_sort	optical coherence tomography findings in three patients with werner syndrome
title_auth	Optical coherence tomography findings in three patients with Werner syndrome
abstract	Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images. © The Author(s) 2022
abstractGer	Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images. © The Author(s) 2022
abstract_unstemmed	Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images. © The Author(s) 2022
collection_details	GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700
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title_short	Optical coherence tomography findings in three patients with Werner syndrome
url	https://dx.doi.org/10.1186/s12886-022-02660-z
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author2	Yokouchi, Hirotaka Miura, Gen Koshizaka, Masaya Maezawa, Yoshiro Oshitari, Toshiyuki Yokote, Koutaro Baba, Takayuki
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Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. 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Optical coherence tomography findings in three patients with Werner syndrome

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